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The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources.
DiStefano MT, Goehringer S, Babb L, Alkuraya FS, Amberger J, Amin M, Austin-Tse C, Balzotti M, Berg JS, Birney E, Bocchini C, Bruford EA, Coffey AJ, Collins H, Cunningham F, Daugherty LC, Einhorn Y, Firth HV, Fitzpatrick DR, Foulger RE, Goldstein J, Hamosh A, Hurles MR, Leigh SE, Leong IUS, Maddirevula S, Martin CL, McDonagh EM, Olry A, Puzriakova A, Radtke K, Ramos EM, Rath A, Riggs ER, Roberts AM, Rodwell C, Snow C, Stark Z, Tahiliani J, Tweedie S, Ware JS, Weller P, Williams E, Wright CF, Yates TM, Rehm HL. DiStefano MT, et al. Among authors: weller p. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4. Genet Med. 2022. PMID: 35507016 Free PMC article.
Generating Clinical-Grade Gene-Disease Validity Classifications Through the ClinGen Data Platforms.
Wright MW, Thaxton CL, Nelson T, DiStefano MT, Savatt JM, Brush MH, Cheung G, Mandell ME, Wulf B, Ward TJ, Goehringer S, O'Neill T, Weller P, Preston CG, Keseler IM, Goldstein JL, Strande NT, McGlaughon J, Azzariti DR, Cordova I, Dziadzio H, Babb L, Riehle K, Milosavljevic A, Martin CL, Rehm HL, Plon SE, Berg JS, Riggs ER, Klein TE. Wright MW, et al. Among authors: weller p. Annu Rev Biomed Data Sci. 2024 Apr 25. doi: 10.1146/annurev-biodatasci-102423-112456. Online ahead of print. Annu Rev Biomed Data Sci. 2024. PMID: 38663031 Review.
Isolation, characterisation and description of the roseoflavin producer Streptomyces berlinensis sp. nov.
Liunardo JJ, Messerli S, Gregotsch AK, Lang S, Schlosser K, Rückert-Reed C, Busche T, Kalinowski J, Zischka M, Weller P, Nouioui I, Neumann-Schaal M, Risdian C, Wink J, Mack M. Liunardo JJ, et al. Among authors: weller p. Environ Microbiol Rep. 2024 Apr;16(2):e13266. doi: 10.1111/1758-2229.13266. Environ Microbiol Rep. 2024. PMID: 38653477 Free PMC article.
Biologic Therapy in Rare Eosinophil-Associated Disorders: Remaining Questions and Translational Research Opportunities.
Khoury P, Roufosse F, Kuang FL, Ackerman SJ, Akuthota P, Bochner BS, Johansson MW, Mathur SK, Ogbogu PU, Spencer LA, Wechsler ME, Zimmermann N, Klion AD; International Eosinophil Society Clinical Research Interest Group. Khoury P, et al. J Leukoc Biol. 2024 Mar 8:qiae051. doi: 10.1093/jleuko/qiae051. Online ahead of print. J Leukoc Biol. 2024. PMID: 38457125
566 results